Incidental Mutation 'R4373:BC034090'
ID 326043
Institutional Source Beutler Lab
Gene Symbol BC034090
Ensembl Gene ENSMUSG00000033722
Gene Name cDNA sequence BC034090
Synonyms
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155088217-155120190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155101904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 120 (N120S)
Ref Sequence ENSEMBL: ENSMUSP00000140632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]
AlphaFold A0A087WP46
Predicted Effect probably benign
Transcript: ENSMUST00000035914
AA Change: N120S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:DUF4685 44 168 6.6e-57 PFAM
low complexity region 486 500 N/A INTRINSIC
low complexity region 562 568 N/A INTRINSIC
low complexity region 640 652 N/A INTRINSIC
PDZ 830 905 4.8e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186082
Predicted Effect probably benign
Transcript: ENSMUST00000186156
AA Change: N482S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: N482S

DomainStartEndE-ValueType
low complexity region 446 463 N/A INTRINSIC
low complexity region 779 793 N/A INTRINSIC
low complexity region 855 861 N/A INTRINSIC
low complexity region 933 945 N/A INTRINSIC
PDZ 1123 1198 2.2e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186551
Predicted Effect probably benign
Transcript: ENSMUST00000187096
AA Change: N120S

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: N120S

DomainStartEndE-ValueType
low complexity region 84 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190976
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Stat4 T C 1: 52,111,100 (GRCm39) probably null Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging Het
Other mutations in BC034090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:BC034090 APN 1 155,101,193 (GRCm39) missense possibly damaging 0.95
IGL00159:BC034090 APN 1 155,101,197 (GRCm39) nonsense probably null
IGL00481:BC034090 APN 1 155,108,267 (GRCm39) missense probably benign 0.04
IGL01309:BC034090 APN 1 155,102,130 (GRCm39) missense probably damaging 0.98
IGL01813:BC034090 APN 1 155,102,085 (GRCm39) nonsense probably null
IGL01938:BC034090 APN 1 155,108,338 (GRCm39) splice site probably null
IGL01982:BC034090 APN 1 155,099,078 (GRCm39) missense probably damaging 1.00
IGL02115:BC034090 APN 1 155,108,397 (GRCm39) intron probably benign
IGL02338:BC034090 APN 1 155,093,217 (GRCm39) missense probably damaging 1.00
IGL02406:BC034090 APN 1 155,100,899 (GRCm39) missense probably benign 0.00
IGL03243:BC034090 APN 1 155,101,401 (GRCm39) missense possibly damaging 0.71
IGL03290:BC034090 APN 1 155,101,856 (GRCm39) missense probably damaging 1.00
BB004:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
BB014:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R0055:BC034090 UTSW 1 155,117,404 (GRCm39) missense probably damaging 1.00
R1436:BC034090 UTSW 1 155,101,662 (GRCm39) missense probably benign 0.04
R1649:BC034090 UTSW 1 155,101,319 (GRCm39) missense possibly damaging 0.72
R1710:BC034090 UTSW 1 155,101,610 (GRCm39) missense possibly damaging 0.82
R1819:BC034090 UTSW 1 155,101,575 (GRCm39) missense possibly damaging 0.58
R1969:BC034090 UTSW 1 155,100,972 (GRCm39) missense possibly damaging 0.90
R1996:BC034090 UTSW 1 155,097,340 (GRCm39) unclassified probably benign
R2012:BC034090 UTSW 1 155,097,178 (GRCm39) missense probably damaging 0.98
R2133:BC034090 UTSW 1 155,101,532 (GRCm39) missense probably benign 0.27
R3426:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3427:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3428:BC034090 UTSW 1 155,117,244 (GRCm39) missense probably benign 0.00
R3782:BC034090 UTSW 1 155,102,024 (GRCm39) missense probably damaging 1.00
R3792:BC034090 UTSW 1 155,117,543 (GRCm39) missense probably damaging 0.98
R4234:BC034090 UTSW 1 155,117,326 (GRCm39) missense probably benign
R4377:BC034090 UTSW 1 155,108,196 (GRCm39) missense probably benign 0.00
R4661:BC034090 UTSW 1 155,108,221 (GRCm39) missense probably damaging 0.98
R4676:BC034090 UTSW 1 155,102,010 (GRCm39) missense possibly damaging 0.60
R4729:BC034090 UTSW 1 155,100,836 (GRCm39) missense probably damaging 1.00
R5170:BC034090 UTSW 1 155,089,396 (GRCm39) missense probably damaging 1.00
R5340:BC034090 UTSW 1 155,102,160 (GRCm39) missense possibly damaging 0.74
R5382:BC034090 UTSW 1 155,101,349 (GRCm39) missense probably benign 0.09
R5384:BC034090 UTSW 1 155,117,773 (GRCm39) missense possibly damaging 0.68
R5576:BC034090 UTSW 1 155,117,214 (GRCm39) missense probably benign 0.01
R5891:BC034090 UTSW 1 155,108,793 (GRCm39) unclassified probably benign
R6060:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
R6092:BC034090 UTSW 1 155,100,659 (GRCm39) missense probably damaging 0.99
R6662:BC034090 UTSW 1 155,102,085 (GRCm39) missense possibly damaging 0.92
R6736:BC034090 UTSW 1 155,117,676 (GRCm39) missense possibly damaging 0.92
R6903:BC034090 UTSW 1 155,097,131 (GRCm39) missense probably benign 0.03
R6970:BC034090 UTSW 1 155,117,185 (GRCm39) missense probably damaging 1.00
R7144:BC034090 UTSW 1 155,117,777 (GRCm39) missense probably damaging 1.00
R7201:BC034090 UTSW 1 155,117,680 (GRCm39) missense probably damaging 0.98
R7265:BC034090 UTSW 1 155,101,073 (GRCm39) missense probably damaging 0.96
R7380:BC034090 UTSW 1 155,108,229 (GRCm39) missense probably damaging 1.00
R7436:BC034090 UTSW 1 155,102,127 (GRCm39) missense probably damaging 1.00
R7569:BC034090 UTSW 1 155,093,151 (GRCm39) missense probably benign 0.00
R7587:BC034090 UTSW 1 155,093,232 (GRCm39) missense probably damaging 1.00
R7664:BC034090 UTSW 1 155,117,377 (GRCm39) missense probably damaging 1.00
R7737:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R7782:BC034090 UTSW 1 155,108,410 (GRCm39) intron probably benign
R7927:BC034090 UTSW 1 155,117,371 (GRCm39) nonsense probably null
R8079:BC034090 UTSW 1 155,101,032 (GRCm39) missense probably damaging 1.00
R8204:BC034090 UTSW 1 155,117,488 (GRCm39) missense probably damaging 1.00
R8558:BC034090 UTSW 1 155,097,085 (GRCm39) missense possibly damaging 0.95
R8832:BC034090 UTSW 1 155,102,034 (GRCm39) missense probably damaging 1.00
R8858:BC034090 UTSW 1 155,101,964 (GRCm39) missense probably benign 0.17
R8879:BC034090 UTSW 1 155,102,103 (GRCm39) missense probably benign
R9004:BC034090 UTSW 1 155,102,138 (GRCm39) missense possibly damaging 0.87
R9036:BC034090 UTSW 1 155,117,419 (GRCm39) missense possibly damaging 0.66
R9141:BC034090 UTSW 1 155,108,474 (GRCm39) intron probably benign
R9293:BC034090 UTSW 1 155,101,518 (GRCm39) missense probably benign 0.29
R9348:BC034090 UTSW 1 155,099,049 (GRCm39) missense probably benign 0.00
R9440:BC034090 UTSW 1 155,101,961 (GRCm39) missense probably benign 0.06
R9477:BC034090 UTSW 1 155,102,087 (GRCm39) missense probably damaging 1.00
R9608:BC034090 UTSW 1 155,099,135 (GRCm39) missense possibly damaging 0.79
R9700:BC034090 UTSW 1 155,101,982 (GRCm39) missense probably damaging 1.00
R9787:BC034090 UTSW 1 155,117,955 (GRCm39) missense possibly damaging 0.95
X0002:BC034090 UTSW 1 155,102,025 (GRCm39) nonsense probably null
Z1187:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1189:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1190:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Z1192:BC034090 UTSW 1 155,117,245 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACCATGGGAATTACAGGGC -3'
(R):5'- CAAGAAATGCCCCTGTCTCATG -3'

Sequencing Primer
(F):5'- GAATTACAGGGCCCCAGCAG -3'
(R):5'- CTCATGTCCGTTTTGAAGATGAGTC -3'
Posted On 2015-07-06